A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960852



Internal ID18596099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44386025..44417036hg38UCSC Ensembl
Innerchr19:44890187..44921203hg19UCSC Ensembl
Innerchr19:49582027..49613043hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3831012
hg1931017
hg1831017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2151983, nssv2151981, nssv2151977, nssv2151976, nssv2151984, nssv2151978, nssv2151979, nssv2151985, nssv2151982, nssv2151980
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF285
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960852
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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